Variant report

Variant	rs73694500
Chromosome Location	chr8:90827396-90827397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16900442	1.00[AMR][1000 genomes]
rs16900702	0.83[AMR][1000 genomes]
rs16900823	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16900885	0.83[AMR][1000 genomes]
rs16900910	0.83[AMR][1000 genomes]
rs16900915	0.83[AMR][1000 genomes]
rs16900927	0.83[AMR][1000 genomes]
rs16900928	0.83[AMR][1000 genomes]
rs16900996	0.83[AMR][1000 genomes]
rs56180983	0.83[AMR][1000 genomes]
rs56729468	0.83[AMR][1000 genomes]
rs59398315	0.83[AMR][1000 genomes]
rs59483185	0.83[AMR][1000 genomes]
rs61138709	0.83[AMR][1000 genomes]
rs61327386	0.83[AMR][1000 genomes]
rs73694489	0.83[AMR][1000 genomes]
rs73694495	0.83[AMR][1000 genomes]
rs73696804	0.83[AMR][1000 genomes]
rs73696806	0.83[AMR][1000 genomes]
rs73696812	0.83[AMR][1000 genomes]
rs73696816	0.83[AMR][1000 genomes]
rs73696819	0.83[AMR][1000 genomes]
rs73696820	0.83[AMR][1000 genomes]
rs73696821	0.83[AMR][1000 genomes]
rs7819919	0.83[AMR][1000 genomes]
rs7822697	0.83[AMR][1000 genomes]
rs7835597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs966597	0.83[AMR][1000 genomes]
rs9785090	0.83[AMR][1000 genomes]
rs9969533	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv972243	chr8:90823430-90834708	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90824000-90836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:90825400-90829400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90825600-90827600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:90825600-90829000	Weak transcription	NH-A	brain
6	chr8:90825800-90829000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:90826000-90828800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:90826200-90828800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:90826800-90829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:90827000-90827800	Enhancers	HMEC	breast
11	chr8:90827000-90828000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:90827000-90828200	Enhancers	Osteobl	bone
13	chr8:90827200-90827600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:90827200-90827600	Enhancers	A549	lung
15	chr8:90827200-90828000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:90827200-90828000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:90827200-90828000	Enhancers	NHDF-Ad	bronchial
18	chr8:90827200-90828000	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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